Cornelia de Lange syndrome (CdLS) is a rare malformation syndrome characterized by small stature, limb abnormalities, distinctive facial features, cardiac and gastrointestinal complications, mental retardation, and behavioral issues. The incidence is approximately 1 in 10,000 births, although milder cases are likely underdiagnosed. Through the parent support organization, the CdLS Foundation, families have been gathering annually for over 20 years to meet with each other and with healthcare professionals to discuss and learn more about CdLS; these conferences have grown in size and scope. Professionals have always attended family meetings, but have not had a dedicated forum for presentation of their research or clinical observations, nor for development of further collaboration. This current application requests support for a scientific symposium to be held prior to the 22nd National CdLS Conference in Chicago in June 24-27th 2004. These scientific meetings will be held on a biennial basis. The conference will include and encourage the participation of women, minorities, and trainees. The objectives of the meeting include: 1) providing a forum for the presentation of clinical and basic science research into CdLS, 2) creating an environment in which specialists can interact with each other and CdLS families to engender collaborations and future research undertakings, and 3) generating increased interest in CdLS in the scientific and medical community and encourage researchers to publish and present their work in the field. The organizers expect to generate enthusiasm and collaboration, encourage interest in the field from individuals not previously involved in CdLS, as well as create new ideas for research and clinical initiatives. This meeting will benefit the participants as well as families of affected individuals. [unreadable] [unreadable]